A gene-silencing therapy designed to lower the levels of two proteins was found to improve muscle strength and coordination in a mouse model of spinal and bulbar muscular atrophy (SBMA), a new study shows. The therapy, which targets the protein lysine-specific demethylase 1 (LSD1) and the protein arginine methyltransferase…
People with spinal muscular atrophy (SMA) types 2 and 3 who received Evrysdi (ridisplam) in the SUNFISH clinical trial and its extension part continued to see improvements or stabilizations in motor function after two years, according to published trial data. Notably, patients who were originally assigned to a…
Young children with spinal muscular atrophy (SMA) feel more fearful and sad, and may have a harder time recovering from distress than children who are healthy or have other conditions, a small study in India has found. These patients also seem to have more difficulty expressing their feelings or…
Most children with spinal muscular atrophy (SMA) given the gene therapy Zolgensma (onasemnogene abeparvovec-xioi) retain motor function that exceeds what’s normally seen in untreated disease, according to a new analysis. In fact, a significant number of children who received the approved gene therapy were found to achieve one…
Some videos on YouTube, particularly in-depth ones made by healthcare professionals, provide high-quality and reliable information about treatments for spinal muscular atrophy (SMA), a new study highlights. But many of the examined videos concerning SMA treatments are neither high quality nor reliable, the researchers found, adding importance to identifying…
The motor function of children with spinal muscular atrophy (SMA) improves significantly in the early stages of treatment with Spinraza (nusinersen), namely within its two-month loading dose period, a study reported. No changes in nutritional status — as assessed by weight — were seen then, however, likely because…
In people with spinal muscular atrophy (SMA) who have been on long-term treatment with Spinraza (nusinersen), levels of the protein tau in the spinal fluid are decreased, a new study indicates. The findings imply that measuring levels of tau might be a useful marker for predicting the response…
A new computational tool developed by Pacific Biosciences can identify genetic mutations that cause spinal muscular atrophy (SMA) with high accuracy and could help identify “silent carriers” who aren’t detected by current tests, a new study reports. The study, “Comprehensive SMN1 and SMN2 profiling for…
People with spinal muscular atrophy (SMA) being treated with Spinraza (nusinersen) received most of their injections at recommended times, according to real-world data from two large U.S. databases. In an electronic health records (EHR) database, adherence to treatment was similar in the maintenance and loading phase of Spinraza,…
Researchers in Japan are conducting a study to better understand the natural history of spinal muscular atrophy (SMA) and how well disease-modifying therapies work in the real-world setting. The Biogen Japan-sponsored study will draw on data from the Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA), which…
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